Effect of treatment on renal function in severe osteomalacia due to Wilson's disease.
A patient with Wilson's disease presented at the age of 41 with a neurological defect and gross osteomalacia secondary to a defect of renal tubular reabsorption. He also showed the unusual features of a renal stone in the presence of the Fanconi syndrome and a relatively low alkaline phosphatase level, possibly due to the additional inherited defect of hypophosphatasia. During four years of treatment with penicillamine and calciferol clinical improvement was spectacular. Details of amino-acid clearances before and after treatment are given, and the results suggest that, as in the brain and the liver, the function of the distal renal tubules may be restored in Wilson's disease when copper is removed.
D000328:Adult; D000469:Alkaline Phosphatase / Q000097:blood; D000596:Amino Acids / Q000097:blood / Q000378:metabolism / Q000652:urine; D004872:Ergocalciferols / Q000627:therapeutic use; D005198:Fanconi Syndrome / Q000150:complications; D006527:Hepatolenticular Degeneration / Q000188:drug therapy / Q000503:physiopathology*; D006801:Humans; D007014:Hypophosphatasia / Q000235:genetics; D007668:Kidney / Q000503:physiopathology*; D007669:Kidney Calculi / Q000150:complications; D008297:Male; D008657:Metabolic Clearance Rate; D009461:Neurologic Manifestations; D010018:Osteomalacia / Q000209:etiology / Q000503:physiopathology*; D010396:Penicillamine / Q000627:therapeutic use; D012729:Sex Chromosome Aberrations
D000596:Amino Acids; D004872:Ergocalciferols; D000469:Alkaline Phosphatase; D010396:Penicillamine